Incidental Mutation 'IGL03149:Blvra'
ID411035
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Blvra
Ensembl Gene ENSMUSG00000001999
Gene Namebiliverdin reductase A
Synonyms0610006A11Rik, Blvr, 2500001N03Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.090) question?
Stock #IGL03149
Quality Score
Status
Chromosome2
Chromosomal Location127070665-127097084 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 127082951 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 11 (V11E)
Ref Sequence ENSEMBL: ENSMUSP00000116825 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002064] [ENSMUST00000110389] [ENSMUST00000135529] [ENSMUST00000142737]
Predicted Effect probably damaging
Transcript: ENSMUST00000002064
AA Change: V11E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000002064
Gene: ENSMUSG00000001999
AA Change: V11E

DomainStartEndE-ValueType
Pfam:GFO_IDH_MocA 9 124 2.1e-22 PFAM
Pfam:Biliv-reduc_cat 132 244 2.6e-55 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000110389
AA Change: V11E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106019
Gene: ENSMUSG00000001999
AA Change: V11E

DomainStartEndE-ValueType
Pfam:GFO_IDH_MocA 9 123 9.7e-22 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000135529
AA Change: V11E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118278
Gene: ENSMUSG00000001999
AA Change: V11E

DomainStartEndE-ValueType
Pfam:GFO_IDH_MocA 9 123 1e-22 PFAM
transmembrane domain 125 147 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000142737
AA Change: V11E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116825
Gene: ENSMUSG00000001999
AA Change: V11E

DomainStartEndE-ValueType
Pfam:GFO_IDH_MocA 9 124 4.7e-24 PFAM
Pfam:NAD_binding_3 15 122 1.8e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142861
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the biliverdin reductase family, members of which catalyze the conversion of biliverdin to bilirubin in the presence of NADPH or NADH. Mutations in this gene are associated with hyperbiliverdinemia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: This locus controls electrophoretic mobility of biliverdin reductase. The a allele determines a slowly migrating band in C3H/He, C57BL/H and 101/H; the b allele determines a fast band in BALB/c, CBA/Ca, TFH/H and SM/J. Heterozygotes have both parental bands. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap10 A G 8: 77,409,538 probably benign Het
Arhgap42 A G 9: 9,008,084 I546T possibly damaging Het
Arsj A T 3: 126,439,404 probably benign Het
Ash2l A G 8: 25,818,622 V543A probably benign Het
B4galnt3 A G 6: 120,231,594 probably benign Het
Calcb T C 7: 114,720,136 L51P probably damaging Het
Cd36 T A 5: 17,820,565 K52N probably benign Het
Cebpz T C 17: 78,922,553 N857S probably benign Het
Ces1b A G 8: 93,064,874 probably benign Het
Clspn T C 4: 126,576,502 probably benign Het
Cr2 A T 1: 195,166,366 L283H probably damaging Het
Ctc1 T C 11: 69,031,161 V811A possibly damaging Het
Ctsk T C 3: 95,501,419 S65P possibly damaging Het
Ddx51 A G 5: 110,653,734 N83D probably benign Het
Eci2 T C 13: 34,988,313 T146A probably benign Het
Erbin T C 13: 103,841,163 N629D possibly damaging Het
Etfbkmt A G 6: 149,144,283 E45G probably damaging Het
Fat4 A G 3: 38,991,685 N3951S probably damaging Het
Fktn T C 4: 53,744,653 V311A probably benign Het
Garem1 G T 18: 21,131,466 P534T probably damaging Het
Gm8237 A G 14: 5,864,451 I37T probably benign Het
Ikzf5 T C 7: 131,396,765 K13E probably damaging Het
Kl T A 5: 150,982,735 C523* probably null Het
Klhl7 G A 5: 24,159,689 V574I probably benign Het
Lyst T C 13: 13,681,444 V2450A probably benign Het
Map3k6 A T 4: 133,249,688 I819F probably damaging Het
Mphosph9 T C 5: 124,263,011 E891G probably damaging Het
Myo7b A G 18: 32,014,302 S63P probably damaging Het
Ndufaf7 C T 17: 78,945,010 R283C possibly damaging Het
Nepro G T 16: 44,727,099 A60S probably damaging Het
Nop56 T C 2: 130,277,525 S354P probably damaging Het
Nwd2 T A 5: 63,805,995 L974H probably damaging Het
Olfr1253 T C 2: 89,752,828 probably null Het
Olfr600 A T 7: 103,346,849 H26Q probably benign Het
Pacsin3 T A 2: 91,261,507 probably benign Het
Parp12 C T 6: 39,114,231 D142N probably benign Het
Pcdh15 G A 10: 74,630,695 D1449N probably damaging Het
Pcsk7 C T 9: 45,909,480 T70M probably benign Het
Pld4 T C 12: 112,766,829 F280L probably benign Het
Ppm1k C A 6: 57,524,774 A135S probably damaging Het
Prkcq A T 2: 11,232,545 Y45F probably benign Het
Prom1 T A 5: 44,029,734 I385F probably damaging Het
Prss12 A G 3: 123,505,387 N603D probably benign Het
Ptbp2 G T 3: 119,720,425 T501K possibly damaging Het
Ranbp17 C A 11: 33,243,183 R957L possibly damaging Het
Rasl10a T C 11: 5,058,429 Y42H possibly damaging Het
Serpina9 G A 12: 104,008,610 Q95* probably null Het
Serpinb1b C A 13: 33,085,292 Q3K possibly damaging Het
Sgo2b T A 8: 63,926,583 M1072L probably benign Het
Slc1a5 T C 7: 16,789,820 V250A probably damaging Het
Slc30a6 T C 17: 74,423,023 S303P probably damaging Het
Tbc1d2 A T 4: 46,637,619 I209N probably benign Het
Tmc4 T A 7: 3,667,178 I484L probably benign Het
Ttll5 G A 12: 85,918,984 E36K probably damaging Het
Unc93b1 A G 19: 3,944,041 M391V probably benign Het
Xpo5 T A 17: 46,215,814 probably null Het
Other mutations in Blvra
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1084:Blvra UTSW 2 127080653 missense probably benign 0.00
R1932:Blvra UTSW 2 127095148 missense probably damaging 1.00
R2114:Blvra UTSW 2 127086069 nonsense probably null
R2115:Blvra UTSW 2 127086069 nonsense probably null
R2117:Blvra UTSW 2 127086069 nonsense probably null
R2122:Blvra UTSW 2 127086897 missense probably damaging 0.96
R3734:Blvra UTSW 2 127090255 intron probably benign
R3847:Blvra UTSW 2 127095191 missense probably damaging 0.96
R4110:Blvra UTSW 2 127095155 missense probably damaging 1.00
R4533:Blvra UTSW 2 127090384 splice site probably null
R4620:Blvra UTSW 2 127096965 missense probably damaging 1.00
R4702:Blvra UTSW 2 127092062 missense probably benign 0.01
R5921:Blvra UTSW 2 127087363 intron probably benign
R6322:Blvra UTSW 2 127080539 start gained probably benign
R7474:Blvra UTSW 2 127086849 missense probably damaging 1.00
R7486:Blvra UTSW 2 127087323 missense unknown
R8188:Blvra UTSW 2 127095127 missense probably damaging 1.00
Posted On2016-08-02